CA2451394A1 - Il-4 receptor sequence variation associated with type 1 diabetes - Google Patents
Il-4 receptor sequence variation associated with type 1 diabetes Download PDFInfo
- Publication number
- CA2451394A1 CA2451394A1 CA002451394A CA2451394A CA2451394A1 CA 2451394 A1 CA2451394 A1 CA 2451394A1 CA 002451394 A CA002451394 A CA 002451394A CA 2451394 A CA2451394 A CA 2451394A CA 2451394 A1 CA2451394 A1 CA 2451394A1
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- CA
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- Prior art keywords
- allele
- sequence
- diabetes
- risk
- type
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- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Granted
Links
- 206010067584 Type 1 diabetes mellitus Diseases 0.000 title claims abstract 11
- 102000010787 Interleukin-4 Receptors Human genes 0.000 title 1
- 108010038486 Interleukin-4 Receptors Proteins 0.000 title 1
- 238000000034 method Methods 0.000 claims abstract 15
- 101001033312 Homo sapiens Interleukin-4 receptor subunit alpha Proteins 0.000 claims abstract 5
- 102100039078 Interleukin-4 receptor subunit alpha Human genes 0.000 claims abstract 5
- 108700028369 Alleles Proteins 0.000 claims 15
- 108091034117 Oligonucleotide Proteins 0.000 claims 7
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 claims 7
- 108020004707 nucleic acids Proteins 0.000 claims 6
- 102000039446 nucleic acids Human genes 0.000 claims 6
- 150000007523 nucleic acids Chemical class 0.000 claims 6
- 230000000295 complement effect Effects 0.000 claims 3
- 201000010099 disease Diseases 0.000 claims 2
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims 2
- 238000003752 polymerase chain reaction Methods 0.000 claims 2
- 102000054765 polymorphisms of proteins Human genes 0.000 claims 2
- 230000001681 protective effect Effects 0.000 claims 2
- 238000012163 sequencing technique Methods 0.000 claims 2
- 230000003321 amplification Effects 0.000 claims 1
- 230000003247 decreasing effect Effects 0.000 claims 1
- 238000003199 nucleic acid amplification method Methods 0.000 claims 1
- 239000003153 chemical reaction reagent Substances 0.000 abstract 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Genetics & Genomics (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Molecular Biology (AREA)
- General Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Peptides Or Proteins (AREA)
- Preparation Of Compounds By Using Micro-Organisms (AREA)
Abstract
Methods and reagents for determining sequence variants present at the IL4R
Locus, which facilitates identifying individuals at risk for type 1 diabetes.
Locus, which facilitates identifying individuals at risk for type 1 diabetes.
Claims (22)
1. A method for determining an individual's risk for type 1 diabetes comprising, detecting the presence of an IDDM-associated IL4R allele in a nucleic acid sample of the individual, wherein the presence of said allele indicates the individual's risk for type 1 diabetes.
2. The method of claim 1, wherein the risk for type 1 diabetes is an increased risk.
3. The method of claim 2, wherein the disease-associated allele is a predisposing allele.
4. The method of claim 1, wherein the risk for type 1 diabetes is a decreased risk.
5. The method of claim 4, wherein the disease-associated allele is a protective allele.
6. The method of claim 1, wherein the nucleic acid sample comprises DNA.
7. The method of claim 1, wherein the nucleic acid sample comprises RNA.
8. The method of claim 1, wherein the nucleic acid sample is amplified.
9. The method of claim 8, wherein the nucleic acid sample is amplified by a polymerase chain reaction.
10. The method of claim 1, wherein the allele is detected by amplification.
11. The method of claim 10, wherein the allele is detected by a polymerase chain reaction.
12. The method of claim 1, wherein the allele is detected by sequencing.
13. The method of claim 1, wherein the allele is detected by contacting the nucleic acid sample with one or more sequence-specific oligonucleotides capable of hybridizing to one or more polymorphisms associated with said allele and detecting the hybridized sequence-specific oligonucleotide.
14. The method of claim 13, wherein the one or more sequence specific-oligonucleotides comprise 1, 2, 3, 4, 5, 6, 7 or 8 of the SNPs listed in Table 2.
15. A kit for determining an individual's risk for type 1 diabetes comprising, (a) one or more sequence-specific oligonucleotides each individually comprising a sequence that is fully complementary to a sequence in an IDDM-associated IL4R allele, wherein said sequence comprises one or more polymorphisms associated with said allele; and (b) instructions to use the kit to determine the individual's risk for type 1 diabetes.
16. The kit of claim 15, which contains additional sequencing primers.
17. The kit of claim 15, wherein one or more sequence-specific oligonucleotides are labeled.
18. The kit of claim 17 that includes a means to detect the label.
19. The kit of claim 15, wherein the one or more sequence-specific oligonucleotides are each individually complementary to a sequence in a predisposing IL4R allele.
20. The kit of claim 15, wherein the one or more sequence-specific oligonucleotides are each individually complementary to a sequence in a protective IL4R allele.
21. The kit of claim 15, wherein the one or more sequence-specific oligonucleotides comprise l, 2, 3, 4, 5, 6, 7 or 8 of the SNPs listed in Table 2.
22. The use of one or more SNPs listed in Table 2 for determining an individual's risk for type 1 diabetes.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US30691201P | 2001-07-20 | 2001-07-20 | |
| US60/306,912 | 2001-07-20 | ||
| PCT/EP2002/007956 WO2003010335A2 (en) | 2001-07-20 | 2002-07-17 | Il-4 receptor sequence variation associated with type 1 diabetes |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CA2451394A1 true CA2451394A1 (en) | 2003-02-06 |
| CA2451394C CA2451394C (en) | 2010-02-02 |
Family
ID=23187422
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA002451394A Expired - Fee Related CA2451394C (en) | 2001-07-20 | 2002-07-17 | Il-4 receptor sequence variation associated with type 1 diabetes |
Country Status (7)
| Country | Link |
|---|---|
| US (1) | US20030152951A1 (en) |
| EP (1) | EP1412531B1 (en) |
| JP (1) | JP2004535822A (en) |
| AT (1) | ATE393238T1 (en) |
| CA (1) | CA2451394C (en) |
| DE (1) | DE60226244T2 (en) |
| WO (1) | WO2003010335A2 (en) |
Families Citing this family (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US7205106B1 (en) * | 2001-07-20 | 2007-04-17 | Roche Molecular Systems, Inc. | Association of polymorphisms in IL4-related genes with autoimmune disease |
| JPWO2006051886A1 (en) * | 2004-11-12 | 2008-05-29 | 国立大学法人大阪大学 | A method for predicting the possibility of increasing severity of autoimmune diseases that cause functional impairment due to tissue destruction |
| CA2625446A1 (en) * | 2005-10-13 | 2007-04-19 | Friedrich-Alexander-Universitaet Erlangen-Nuernberg | Means and methods for the prediction of joint destruction |
| GB0523276D0 (en) * | 2005-11-15 | 2005-12-21 | London Bridge Fertility | Chromosomal analysis by molecular karyotyping |
| AU2009246134B2 (en) | 2008-05-16 | 2016-03-03 | The Children's Hospital Of Philadelphia | Genetic alterations on chromosomes 21q, 6q and 15q and methods of use thereof for the diagnosis and treatment of type I diabetes |
-
2002
- 2002-07-03 US US10/189,956 patent/US20030152951A1/en not_active Abandoned
- 2002-07-17 CA CA002451394A patent/CA2451394C/en not_active Expired - Fee Related
- 2002-07-17 JP JP2003515685A patent/JP2004535822A/en active Pending
- 2002-07-17 DE DE60226244T patent/DE60226244T2/en not_active Expired - Lifetime
- 2002-07-17 AT AT02762370T patent/ATE393238T1/en not_active IP Right Cessation
- 2002-07-17 WO PCT/EP2002/007956 patent/WO2003010335A2/en active IP Right Grant
- 2002-07-17 EP EP02762370A patent/EP1412531B1/en not_active Expired - Lifetime
Also Published As
| Publication number | Publication date |
|---|---|
| ATE393238T1 (en) | 2008-05-15 |
| JP2004535822A (en) | 2004-12-02 |
| US20030152951A1 (en) | 2003-08-14 |
| CA2451394C (en) | 2010-02-02 |
| WO2003010335A3 (en) | 2003-10-30 |
| EP1412531A2 (en) | 2004-04-28 |
| DE60226244T2 (en) | 2009-06-25 |
| WO2003010335A2 (en) | 2003-02-06 |
| EP1412531B1 (en) | 2008-04-23 |
| DE60226244D1 (en) | 2008-06-05 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request | ||
| MKLA | Lapsed |
Effective date: 20140717 |